Aliases for GRAMD2A Gene

Aliases for GRAMD2A Gene

  • GRAM Domain Containing 2A 2 3 5
  • GRAM Domain-Containing Protein 2A 3 4
  • GRAM Domain Containing 2 2 3
  • GRAMD2 3 4
  • GRAM Domain-Containing Protein 2 3
  • GRAMD2A 5

External Ids for GRAMD2A Gene

Previous HGNC Symbols for GRAMD2A Gene

  • GRAMD2

Summaries for GRAMD2A Gene

GeneCards Summary for GRAMD2A Gene

GRAMD2A (GRAM Domain Containing 2A) is a Protein Coding gene. Diseases associated with GRAMD2A include Tay-Sachs Disease. An important paralog of this gene is GRAMD2B.

UniProtKB/Swiss-Prot Summary for GRAMD2A Gene

  • Participates in the organization of endoplasmic reticulum-plasma membrane contact sites (EPCS) with pleiotropic functions including STIM1 recruitment and calcium homeostasis. Constitutive tether that co-localize with ESYT2/3 tethers at endoplasmic reticulum-plasma membrane contact sites in a phosphatidylinositol lipid-dependent manner. Pre-marks the subset of phosphtidylinositol 4,5-biphosphate (PI(4,5)P2)-enriched EPCS destined for the store operated calcium entry pathway (SOCE).

Additional gene information for GRAMD2A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GRAMD2A Gene

Genomics for GRAMD2A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GRAMD2A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J072194 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 600.7 -1.7 -1706 9.6 GATAD2A CTCF TEAD4 PRDM10 ZNF629 IKZF1 ZNF692 POLR2A BACH1 ZNF143 GRAMD2A PARP6 ENSG00000261187 ENSG00000261460 ENSG00000212664 HEXA CELF6 PKM TMEM202-AS1 ARIH1
GH15J072271 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.1 -74.8 -74751 3.1 SP1 CREB1 CTCF ARID3A PRDM10 ZNF629 IKZF1 KDM1A ZNF692 POLR2A PARP6 lnc-CELF6-3 TMEM202-AS1 ARIH1 ENSG00000261187 PKM ENSG00000261460 GRAMD2A ENSG00000260672 MYO9A
GH15J072236 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 11.4 -39.8 -39750 2.7 SP1 GATAD2A PRDM10 ZNF629 LEF1 IKZF1 ZNF692 BACH1 JUND PRDM1 PARP6 GRAMD2A ENSG00000261460 PKM lnc-PKM-2
GH15J072167 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 +28.5 28516 4 FOXA1 ZIC2 ZNF341 HMBOX1 CTBP1 ESR1 ZNF592 PKNOX1 NFIC GATA3 PKM GRAMD2A RNU2-65P MYO9A lnc-PKM-66 lnc-PKM-1
GH15J072221 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 11.8 -25.5 -25505 2.9 ZNF692 POLR2A ZIC2 RBFOX2 GTF2F1 ZNF600 CEBPB SP1 JUND ZNF217 GRAMD2A MYO9A PARP6 HEXA PKM lnc-PARP6-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GRAMD2A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GRAMD2A

Genomic Locations for GRAMD2A Gene

Genomic Locations for GRAMD2A Gene
chr15:72,159,806-72,197,814
(GRCh38/hg38)
Size:
38,009 bases
Orientation:
Minus strand
chr15:72,452,147-72,490,136
(GRCh37/hg19)
Size:
37,990 bases
Orientation:
Minus strand

Genomic View for GRAMD2A Gene

Genes around GRAMD2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRAMD2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRAMD2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRAMD2A Gene

Proteins for GRAMD2A Gene

  • Protein details for GRAMD2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IUY3-GRM2A_HUMAN
    Recommended name:
    GRAM domain-containing protein 2A
    Protein Accession:
    Q8IUY3
    Secondary Accessions:
    • B3KT68

    Protein attributes for GRAMD2A Gene

    Size:
    354 amino acids
    Molecular mass:
    40249 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GRAMD2A Gene

Post-translational modifications for GRAMD2A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GRAMD2A Gene

Domains & Families for GRAMD2A Gene

Gene Families for GRAMD2A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for GRAMD2A Gene

InterPro:
Blocks:
  • GRAM domain
ProtoNet:

Suggested Antigen Peptide Sequences for GRAMD2A Gene

GenScript: Design optimal peptide antigens:
  • GRAM domain-containing protein 2 (GRAM2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IUY3

UniProtKB/Swiss-Prot:

GRM2A_HUMAN :
  • GRAM domain is required for specific location to endoplasmic reticulum-plasma membrane contact sites (EPCS). Mediates interaction to phosphatidylinositol lipids and binding to plasma membrane.
Domain:
  • GRAM domain is required for specific location to endoplasmic reticulum-plasma membrane contact sites (EPCS). Mediates interaction to phosphatidylinositol lipids and binding to plasma membrane.
genes like me logo Genes that share domains with GRAMD2A: view

Function for GRAMD2A Gene

Molecular function for GRAMD2A Gene

UniProtKB/Swiss-Prot Function:
Participates in the organization of endoplasmic reticulum-plasma membrane contact sites (EPCS) with pleiotropic functions including STIM1 recruitment and calcium homeostasis. Constitutive tether that co-localize with ESYT2/3 tethers at endoplasmic reticulum-plasma membrane contact sites in a phosphatidylinositol lipid-dependent manner. Pre-marks the subset of phosphtidylinositol 4,5-biphosphate (PI(4,5)P2)-enriched EPCS destined for the store operated calcium entry pathway (SOCE).

Phenotypes From GWAS Catalog for GRAMD2A Gene

Gene Ontology (GO) - Molecular Function for GRAMD2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 29469807
GO:0008289 lipid binding IEA --
GO:0035091 phosphatidylinositol binding IDA 29469807
genes like me logo Genes that share ontologies with GRAMD2A: view
genes like me logo Genes that share phenotypes with GRAMD2A: view

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GRAMD2A Gene

Localization for GRAMD2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRAMD2A Gene

Endoplasmic reticulum membrane. Single-pass membrane protein. Cell membrane. Peripheral membrane protein. Note=Localizes to endoplasmic reticulum-plasma membrane contact sites (EPCS). Anchored at the ER, PM binding is mediated via GRAM domain and phosphatidylinositol lipid interaction. Localizes to distinct EPCS than GRAMD1A. {ECO:0000269 PubMed:29469807}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GRAMD2A gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
extracellular 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear speckles (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GRAMD2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GRAMD2A: view

Pathways & Interactions for GRAMD2A Gene

PathCards logo

SuperPathways for GRAMD2A Gene

No Data Available

Gene Ontology (GO) - Biological Process for GRAMD2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0061817 endoplasmic reticulum-plasma membrane tethering IDA 29469807
GO:2001256 regulation of store-operated calcium entry IDA 29469807
genes like me logo Genes that share ontologies with GRAMD2A: view

No data available for Pathways by source and SIGNOR curated interactions for GRAMD2A Gene

Drugs & Compounds for GRAMD2A Gene

No Compound Related Data Available

Transcripts for GRAMD2A Gene

mRNA/cDNA for GRAMD2A Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for GRAMD2A Gene

No ASD Table

Relevant External Links for GRAMD2A Gene

GeneLoc Exon Structure for
GRAMD2A

Expression for GRAMD2A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GRAMD2A

Evidence on tissue expression from TISSUES for GRAMD2A Gene

  • Nervous system(4.2)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GRAMD2A Gene

Orthologs for GRAMD2A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GRAMD2A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GRAMD2 30 31
  • 99.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GRAMD2 30 31
  • 86.44 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GRAMD2 30 31
  • 85.88 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gramd2 30 17 31
  • 82.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gramd2 30
  • 82.04 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia GRAMD2 31
  • 68 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GRAMD2 31
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GRAMD2 30 31
  • 72.47 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GRAMD2 31
  • 54 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii gramd2a 30 31
  • 61.13 (n)
OneToMany
GRAMD2 (2 of 2) 31
  • 38 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ZC328.3 31
  • 11 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 31
  • 5 (a)
ManyToMany
YSP2 31
  • 4 (a)
ManyToMany
Species where no ortholog for GRAMD2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for GRAMD2A Gene

ENSEMBL:
Gene Tree for GRAMD2A (if available)
TreeFam:
Gene Tree for GRAMD2A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GRAMD2A: view image

Paralogs for GRAMD2A Gene

Paralogs for GRAMD2A Gene

genes like me logo Genes that share paralogs with GRAMD2A: view

Variants for GRAMD2A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GRAMD2A Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
710817 Likely Benign: not provided 72,163,644(-) ACTGT/A FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for GRAMD2A Gene

Structural Variations from Database of Genomic Variants (DGV) for GRAMD2A Gene

Variant ID Type Subtype PubMed ID
esv3636871 CNV loss 21293372
nsv1113725 CNV deletion 24896259
nsv833051 CNV gain 17160897

Variation tolerance for GRAMD2A Gene

Residual Variation Intolerance Score: 87.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.20; 39.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GRAMD2A Gene

Human Gene Mutation Database (HGMD)
GRAMD2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRAMD2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRAMD2A Gene

Disorders for GRAMD2A Gene

MalaCards: The human disease database

(1) MalaCards diseases for GRAMD2A Gene - From: DISEASES

Disorder Aliases PubMed IDs
tay-sachs disease
  • tsd
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with GRAMD2A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GRAMD2A Gene

Publications for GRAMD2A Gene

  1. GRAM domain proteins specialize functionally distinct ER-PM contact sites in human cells. (PMID: 29469807) Besprozvannaya M … Nunnari J (eLife 2018) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. POH1 contributes to hyperactivation of TGF-β signaling and facilitates hepatocellular carcinoma metastasis through deubiquitinating TGF-β receptors and caveolin-1. (PMID: 30745168) Wang B … Liu Y (EBioMedicine 2019) 3
  5. Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. (PMID: 23319000) Luykx JJ … Ophoff RA (Molecular psychiatry 2014) 3

Products for GRAMD2A Gene

Sources for GRAMD2A Gene